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Frontiers in Genetics|June 9, 2018
Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene AssaysEugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, et al.
Frontiers in Genetics|March 27, 2020
<i>UGT1A1</i> Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene AssaysLinda Gailite, Alberto Valenzuela-Palomo, Lara Sanoguera-Miralles, et al.
The Journal of Pathology|March 19, 2019
Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assaysEugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, et al.
Frontiers in Genetics|June 14, 2019
Minigene Splicing Assays Identify 12 Spliceogenic Variants of <i>BRCA2</i> Exons 14 and 15Eugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, et al.
Cancers|November 9, 2024
Splicing Dysregulation of Non-Canonical GC-5' Splice Sites of Breast Cancer Susceptibility Genes <i>ATM</i> and <i>PALB2</i>Inés Llinares-Burguet, Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, et al.
Breast Cancer Research and Treatment|May 17, 2018
Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variantsEugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, et al.
The Journal of Pathology|November 13, 2025
Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretationInés Llinares-Burguet, Lara Sanoguera-Miralles, Elena Bueno-Martínez, et al.
Cancers|June 24, 2022
Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene <i>RAD51C</i>Lara Sanoguera-Miralles, Elena Bueno-Martínez, Alberto Valenzuela-Palomo, et al.
Cancers|September 23, 2022
Splicing Analysis of 16 <i>PALB2</i> ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic VariantsAlberto Valenzuela-Palomo, Lara Sanoguera-Miralles, Elena Bueno-Martínez, et al.
The Journal of Pathology|February 9, 2024
Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variantsLara Sanoguera-Miralles, Inés Llinares-Burguet, Elena Bueno-Martínez, et al.
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